FAQ

The purpose of this page is to provide JXG parents with talking points to discuss with their physicians. This information should not be considered medical advice. The questions and answers in this section have been collected through our JXG group and from the Histiocytosis Association of America website.

General Questions About All Types of JXG: Q: What is the cause of JXG? Is it hereditary? Is there a connection between high cholesterol and JXG?
A: The cause of JXG is still not known. According to a HAA researchers and three doctors in the group, there is no association between hypercholesterolemia and JXG. Also neither of them were aware of familial cases of JXG.

Q: How many types of JXG exist?
A: For organizational and educational purposes, we can dive JXG in three categories: 1) Cutaneous JXG, where lesions are only found in the skin and usually follows a benign course without treatment. 2) Systemic JXG, where lesions are present in multiple organs such as skin, eye, lung, spinal cord, brain, etc. and 3) Ocular JXG, where lesions are present in the eyes and they may or may not be accompanied by skin lesions.

Q: How often does JXG occur?
A: According to the HAA, frequency of occurrence in the United States is unknown. However, the
Sydney Salem Golding Fund reports that Systemic JXG attacks 1 in 10 million children. If we use this statistic, combined with the information provided by
Dr. Sheila Weitzman from the Sick Children Hospital in Toronto, Canada, that indicates that 4 to 10% of Skin only cases of JXG become Systemic, we can imply that Skin JXG occurrance is bettwen 1 in 400,000 to 1 in 1million children.

Q: What type of doctor treats JXG?

A: For Skin-only JXG usually a dermatologist is involved and sometimes an oncologist. For Systemic JXG, most of the times is an oncologist or pathologist who provides treatment. And for Ocular JXG the physician is an ophthalmologist.

Q: What are the chances of relapse after JXG disappeared?

A: According to a video lecture on Histiocytic Disorders by Dr. Sheila Weitzman from The Sick Children's Hospital in Toronto, Canada, JXG recurrence is less than 7%. This lecture is available under the "About JXG" section of the blog.

Specific Questions About Systemic JXG: Q: How is Systemic JXG diagnosed?
A: A definitive JXG diagnosis can only be obtained via biopsy.

Q: Is there a standard protocol to treat Systemic JXG?
A: There is no standard treatment for Systemic JXG to date. Some protocols are known to help resolve certain lesions (ex. 2CDA (chemo) can be affective with CNS involvement ). General suggestions from the LCH-III protocol can be also applied to certain cases at the discretion of your physician.

Q: Can Skin-only JXG become Systemic JXG?

A: Yes, according to an article entitled "Uncommon Histiocytic Disorders" by Weitzman and Jaffe, extra-cutaneous (non-skin) involvement occurs in 4% to 10% of children with skin JXG. The most common site of extra-cutaneous JXG is below the skin (soft tissue) and followed by the eye.

Specific Questions About Ocular JXG: Q: How is Ocular JXG diagnosed?

A: An ocular ultrasound is generally used to help confirm the location of the intraocular or orbital lesions.

Q: What are the most usual symptoms of Ocular JXG?
A: Red eye with spontaneous hemorrhage, cloudiness in a portion of the iris and/ or unremitting glaucoma.

Q: How often does Ocular JXG occur?
A: Ocular involvement is very low, around 4%. However, it can seriously compromise the functioning of sight. 92% of ocular JXG happens in children younger than 2 years old. Notice that in 45% of the cases, patients will not develop skin lesions. Due to this information it is key that all children younger than 24 month of age who present multiple skin lesions see an eye doctor regularly (every 3 to 6 months)

Q: Is there a standard protocol to treat Ocular JXG?
A: No, there is not. However, the use of steroid eye-drops is highly common. It is important to ask about the side effects of this medication since steroid eye-drops can increase ocular pressure. Also, inquiries about light sensitivity, blurring of vision, eye darkening, growth of thick, long eyelashes and use of glasses in the future should be made.

A: As of today, there is no standardized diagnostic protocol, treatment protocol, or follow-up protocol for cutaneous JXG. While some physicians have a “wait and see” approach and will not order any tests unless there are symptoms that indicate the need for them, other doctors are more aggressive. Depending on the symptoms, some physicians may order: blood work (looking at the sedimentation rate as an indicator of inflammation and liver tests for health of the liver), ultrasounds, skeletal x-rays, MRI and/or CT scans. However, a complete eye-exam is highly advised for young children with multiple skin lesions. The frequency of follow-ups usually varies between two to six months.

Q: Can Skin-only JXG become Systemic JXG?

A: Yes, according to an article entitled "Uncommon Histiocytic Disorders" by Weitzman and Jaffe, extra-cutaneous (non-skin) involvement occurs in 4% to 10% of children with skin JXG. The most common site of extra-cutaneous JXG is below the skin (soft tissue) and followed by the eye.

Q: How many skin lesions will my child have?
A: The answer varies enormously case by case. Nevertheless, the younger the patient, the more likely skin lesions will become multiple. The average age for single-skin lesion patients is 2 years old while the average for multiple-skin lesion patients is 5 months.

Q: Does the above answer mean that all young infants that currently have 1 skin lesion will develop multiple JXG?

A: Not necessarily, however young babies have bigger chances to develop multiple skin lesions than those patients whose first lesions appeared after a year and a half or two of age. Two of the babies in our group that have only had one lesion (the one that was biopsied to determine the JXG diagnoses) never developed more.

Q: Were do skin lesions usually appear?
A: JXG normally shows a predilection for the upper body: scalp, face, neck, shoulders, upper trunk and upper back. Yet, for patients with multiple lesions, they can also present lesions in the extremities, buttocks, feet and foot souls.

Q: When will Skin lesions stop developing?
A: There is no exact answer to this question. Some studies suggest that in most patients, lesions stop developing between 9 months and 1.5 years. However, there are documented cases where lesions stopped developing sooner or later than this time frame.

Q: My child has some lesions that are flattening down but there are new ones developing, is this normal?
A: Yes, each lesion has its own life cycle. This is why not all of them will regress at the same time.

Q: How long will Cutaneous JXG take to regress completely?
A: There is no precise time frame to this question. Nevertheless, the majority of the cases will regress between 2 and 5 years. It is believed that the younger the patient, the less time it will take for the condition to regress. There is a case study where a baby who was born with JXG lesions experienced regression at 4 month. Yet there are a few cases where the disease did not disappear completely until early puberty.

Q: Will all Cutaneous JXG lesions go away? Will they leave scars?
A: Generally, the younger the patient, the bigger the chances that lesions will disappear without leaving marks and on their own. However, lesions bigger than 2cm in diameter or "high" in volume, have a higher probability to have some residual skin after the lesions have flatten down. For the rare occasions when JXG lesions appear in adulthood, they will not regress on their own. Here are some pictures of lesions that have flatten out.

Q: Should we treat the JXG outbreaks topically?
A: As indicated before there is no standard treatment for Skin JXG. Some dermatologist recommend applying some moisturizing lotion such Aquaphor to prevent and minimize the formation of scabs.

Q: Why do some JXG lesions have scabs? Is scabbing a sign of maturity?
A: As lesions keep growing, the skin stretches and vessels break forming scabs. Scabbing is part of the normal life cycle of lesions but it does not mean maturity. The yellowing of them does.

Q: How do JXG scabs look like?
A: First, lets clarify that not all lesions will develop scabs. Usually for small size lesions, scabs are thin and transparent almost as when our skin peels off due to sunburn. For bigger lesion, a thicker and darker scab can develop like the one shown
here.

Q: What color are the lesions? Can they change color?
A: lesions can be: pink, yellow, orange, red and brown. Generally as the lesions are maturing they move to a more yellow or brown color.

Q: Should we take special care avoiding the sun?
A: Same care as taken with the rest of the child’s skin should be followed.

Q: What happens if my kid scratches his/her JXG lesions?
A: Nothing. It is the same as when he/she scratches any other part of his/her body.

Q: Can Cutaneous JXG lesions be removed with plastic surgery? If so, when should we seek this procedure?
A: Yes, skin JXG lesions can be removed with plastic surgery. This is a highly advisable when lesions are an impediment to proper functioning of organs. Example, lesion on eyelids or nostril. For cosmetic purpose, it is up to the discretion of doctors and parents. In the majority of cases, general anesthesia is necessary for the removal of facial lesions in infant and toddlers.

Q: If JXG lesions are removed, will they come back?
A: There is a small percentage of cases when JXG lesions reappeared after being removed. In general, they do not come back but the removal will leave a scar.

Q: What is a Giant JXG lesion (nodule lesion)?
A: A Giant JXG lesion is just a larger lesion. In order to be consider “Giant or Nodule”, the lesion has to be bigger than 4cm. Most regular JXG lesions are papules under 0.5 cm.

Q: Do Giant JXG lesions (JXG nodules) behave the same as regular JXG lesions (papules)?
A: Giant JXG lesions have the same disease pathology as regular JXG lesions, they are just larger and less frequent.